A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12313491



Internal ID5420634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34561753..34636363hg38UCSC Ensembl
chr6:34529530..34604140hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3874611
hg1974611
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608664
Supporting Variants
SamplesNA18951
Known GenesC6orf106
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12313491
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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